Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01636:Lrrn2'

93012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrn2

Ensembl Gene

ENSMUSG00000026443

Gene Name

leucine rich repeat protein 2, neuronal

Synonyms

NLRR-2, 5730406J09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01636

Quality Score

Status

Chromosome

Chromosomal Location

132808093-132867743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132864959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 8 (L8P)

Ref Sequence

ENSEMBL: ENSMUSP00000027706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027706]

AlphaFold

Q6PHP6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027706
AA Change: L8P

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027706
Gene: ENSMUSG00000026443
AA Change: L8P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	28	73	2.22e-2	SMART
LRR	92	115	3.86e0	SMART
LRR	116	139	1.08e-1	SMART
LRR_TYP	140	163	3.21e-4	SMART
LRR	164	187	1.33e-1	SMART
LRR	188	211	5.89e1	SMART
LRR	212	235	1.66e1	SMART
LRR	236	259	4.98e-1	SMART
LRR	260	283	5.26e0	SMART
LRR	309	333	5.56e0	SMART
LRR	334	357	2.17e-1	SMART
LRRCT	369	421	3.13e-3	SMART
IGc2	436	504	9.99e-13	SMART
FN3	525	607	3.49e0	SMART
transmembrane domain	629	651	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159088

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibited numerous neurological abnormalities when compared with controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,723 (GRCm39)	T633A	possibly damaging	Het
Adgrd1	G	T	5: 129,219,516 (GRCm39)		probably benign	Het
Bmp7	T	C	2: 172,717,001 (GRCm39)		probably benign	Het
Ccdc54	A	G	16: 50,410,277 (GRCm39)	*330Q	probably null	Het
Chd5	A	T	4: 152,469,110 (GRCm39)	K1812*	probably null	Het
Cnga3	T	A	1: 37,299,874 (GRCm39)	I236N	possibly damaging	Het
Ddost	T	G	4: 138,036,707 (GRCm39)	D135E	possibly damaging	Het
Dicer1	T	C	12: 104,688,500 (GRCm39)	D359G	probably damaging	Het
Dnah17	A	C	11: 117,931,882 (GRCm39)	S3697A	probably benign	Het
Dnttip2	G	A	3: 122,076,123 (GRCm39)	G685D	possibly damaging	Het
Dst	T	G	1: 34,254,650 (GRCm39)	S4552R	probably damaging	Het
Ebf2	G	A	14: 67,476,927 (GRCm39)	E157K	probably damaging	Het
Ehbp1	C	T	11: 22,039,584 (GRCm39)	V839M	probably benign	Het
Ehmt1	G	T	2: 24,729,620 (GRCm39)	T639K	probably damaging	Het
Esyt2	T	C	12: 116,329,550 (GRCm39)		probably null	Het
Etv6	T	C	6: 134,225,350 (GRCm39)	S194P	probably benign	Het
Fam184b	T	C	5: 45,741,637 (GRCm39)	H198R	probably benign	Het
Fam210b	T	C	2: 172,193,460 (GRCm39)	F91S	probably damaging	Het
Fam81a	G	A	9: 70,006,434 (GRCm39)	Q193*	probably null	Het
Fto	A	G	8: 92,135,969 (GRCm39)	D79G	probably damaging	Het
Haspin	C	T	11: 73,028,231 (GRCm39)	R286H	possibly damaging	Het
Hmcn1	C	T	1: 150,455,984 (GRCm39)	C5312Y	probably damaging	Het
Ik	T	A	18: 36,884,254 (GRCm39)	D245E	possibly damaging	Het
Itga1	A	G	13: 115,143,484 (GRCm39)	V349A	possibly damaging	Het
Kdm8	T	C	7: 125,060,377 (GRCm39)	V400A	probably damaging	Het
Larp1b	G	T	3: 40,924,913 (GRCm39)	R177L	probably benign	Het
Lifr	T	G	15: 7,208,499 (GRCm39)		probably benign	Het
Marcksl1	T	A	4: 129,408,587 (GRCm39)	D55E	probably benign	Het
Med12	C	A	X: 100,318,795 (GRCm39)	S74R	probably damaging	Het
Mtarc2	T	C	1: 184,564,838 (GRCm39)	K231E	probably benign	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c35	A	T	10: 129,168,752 (GRCm39)	M1L	probably damaging	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or8k39	G	A	2: 86,563,945 (GRCm39)	Q4*	probably null	Het
Orc3	A	C	4: 34,595,096 (GRCm39)	L233R	probably damaging	Het
Pik3cd	A	G	4: 149,738,772 (GRCm39)	M715T	possibly damaging	Het
Prss43	T	A	9: 110,656,505 (GRCm39)	L64Q	possibly damaging	Het
Pyroxd2	C	A	19: 42,726,771 (GRCm39)	G209V	probably benign	Het
Rab3b	A	G	4: 108,797,916 (GRCm39)	D198G	possibly damaging	Het
Rrbp1	A	T	2: 143,789,815 (GRCm39)		probably benign	Het
Smg6	T	C	11: 74,825,929 (GRCm39)		probably null	Het
Ssrp1	T	C	2: 84,871,443 (GRCm39)		probably benign	Het
Strip2	C	A	6: 29,931,192 (GRCm39)	T381K	probably benign	Het
Svep1	A	T	4: 58,116,622 (GRCm39)	L876Q	possibly damaging	Het
Tle4	T	C	19: 14,429,897 (GRCm39)	I625V	probably damaging	Het
Tnfrsf23	T	C	7: 143,233,736 (GRCm39)	T81A	probably damaging	Het
Ttc41	A	G	10: 86,612,542 (GRCm39)	K1272E	probably benign	Het
Usp3	A	G	9: 66,469,834 (GRCm39)		probably null	Het
Vmn1r121	C	T	7: 20,832,282 (GRCm39)	V53M	probably benign	Het
Vmn1r65	A	T	7: 6,011,720 (GRCm39)	S171R	probably benign	Het
Vmn2r4	A	T	3: 64,313,657 (GRCm39)	D441E	probably benign	Het
Vps13d	A	T	4: 144,801,618 (GRCm39)	H2353Q	probably damaging	Het
Vwa8	T	C	14: 79,435,794 (GRCm39)	S1835P	possibly damaging	Het

Other mutations in Lrrn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Lrrn2	APN	1	132,866,096 (GRCm39)	missense	possibly damaging	0.89
IGL01407:Lrrn2	APN	1	132,864,965 (GRCm39)	missense	probably damaging	1.00
IGL02134:Lrrn2	APN	1	132,865,555 (GRCm39)	missense	possibly damaging	0.69
IGL02142:Lrrn2	APN	1	132,866,983 (GRCm39)	missense	possibly damaging	0.86
IGL03240:Lrrn2	APN	1	132,866,065 (GRCm39)	missense	possibly damaging	0.53
R0226:Lrrn2	UTSW	1	132,865,558 (GRCm39)	missense	probably damaging	1.00
R0612:Lrrn2	UTSW	1	132,865,466 (GRCm39)	missense	probably damaging	1.00
R1185:Lrrn2	UTSW	1	132,866,959 (GRCm39)	missense	probably benign	0.00
R1185:Lrrn2	UTSW	1	132,866,959 (GRCm39)	missense	probably benign	0.00
R1185:Lrrn2	UTSW	1	132,866,959 (GRCm39)	missense	probably benign	0.00
R1969:Lrrn2	UTSW	1	132,866,972 (GRCm39)	missense	probably benign	0.00
R2087:Lrrn2	UTSW	1	132,865,489 (GRCm39)	missense	probably damaging	1.00
R3923:Lrrn2	UTSW	1	132,866,230 (GRCm39)	missense	probably benign	0.45
R4006:Lrrn2	UTSW	1	132,865,478 (GRCm39)	missense	probably damaging	1.00
R4022:Lrrn2	UTSW	1	132,866,852 (GRCm39)	missense	probably benign
R4091:Lrrn2	UTSW	1	132,865,390 (GRCm39)	nonsense	probably null
R4092:Lrrn2	UTSW	1	132,865,390 (GRCm39)	nonsense	probably null
R4719:Lrrn2	UTSW	1	132,866,915 (GRCm39)	missense	probably benign
R5285:Lrrn2	UTSW	1	132,866,983 (GRCm39)	missense	possibly damaging	0.86
R5681:Lrrn2	UTSW	1	132,864,899 (GRCm39)	start gained	probably benign
R5791:Lrrn2	UTSW	1	132,865,505 (GRCm39)	missense	probably benign	0.00
R5916:Lrrn2	UTSW	1	132,865,538 (GRCm39)	missense	probably damaging	1.00
R6646:Lrrn2	UTSW	1	132,866,794 (GRCm39)	missense	probably benign
R7021:Lrrn2	UTSW	1	132,866,522 (GRCm39)	missense	probably damaging	1.00
R7686:Lrrn2	UTSW	1	132,866,332 (GRCm39)	missense	probably benign	0.04
R7811:Lrrn2	UTSW	1	132,866,939 (GRCm39)	missense	probably benign
R7869:Lrrn2	UTSW	1	132,867,116 (GRCm39)	missense	unknown
R8004:Lrrn2	UTSW	1	132,865,489 (GRCm39)	missense	probably damaging	1.00
R8195:Lrrn2	UTSW	1	132,865,082 (GRCm39)	missense	probably damaging	1.00
R8815:Lrrn2	UTSW	1	132,866,831 (GRCm39)	missense	possibly damaging	0.87
R8948:Lrrn2	UTSW	1	132,866,104 (GRCm39)	missense	probably benign	0.39
R9244:Lrrn2	UTSW	1	132,865,237 (GRCm39)	missense	probably damaging	1.00
R9244:Lrrn2	UTSW	1	132,865,058 (GRCm39)	missense	probably damaging	1.00
R9325:Lrrn2	UTSW	1	132,865,241 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrn2	UTSW	1	132,866,716 (GRCm39)	missense	probably benign	0.00
Z1177:Lrrn2	UTSW	1	132,865,636 (GRCm39)	nonsense	probably null

Posted On

2013-12-09